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ADCY5 - adenylate cyclase 5 Gene

Also Known as AC5; FDFM; DSKOD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 111

About ADCY5

Cytogenetic location: 3q21.1 Genomic coordinates (GRCh38): 3:123,282,296-123,449,090 (from NCBI)

This gene has 16 transcripts (splice variants), 206 orthologues, 17 paralogues and is associated with 6 phenotypes. Broad expression in heart (RPKM 22.9), brain (RPKM 7.3) and 17 other tissues.

Summary

This gene encodes a member of the membrane-bound adenylyl cyclase Enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

ADCY5 Products (3)

mRNA	Protein	Name
NM_001199642.1	NP_001186571.1	adenylate cyclase type 5 isoform 2
NM_001378259.1	NP_001365188.1	adenylate cyclase type 5 isoform 3
NM_183357.3	NP_899200.1	adenylate cyclase type 5 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables adenylate cyclase activity	IDA IDA: Inferred from direct assay	15385642	GOA
enables adenylate cyclase activity	IMP IMP: Inferred from mutant phenotype	24740569	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	24700542	GOA
involved in cAMP biosynthetic process	IDA IDA: Inferred from direct assay	15385642	GOA
involved in cAMP biosynthetic process	IMP IMP: Inferred from mutant phenotype	24740569	GOA
involved in cellular response to forskolin	IDA IDA: Inferred from direct assay	15385642	GOA
involved in positive regulation of cytosolic calcium ion concentration	IMP IMP: Inferred from mutant phenotype	24740569	GOA
involved in regulation of insulin secretion involved in cellular response to glucose stimulus	IMP IMP: Inferred from mutant phenotype	24740569	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in membrane	IDA IDA: Inferred from direct assay	15385642	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ADCY5 Protein Structure

Guanylate_cyc

DUF1053

Guanylate_cyc

0
200
400
600
800
1000
1200
1261 a.a.

Protein Preferred Names	Protein Names
adenylate cyclase type 5	ATP pyrophosphate-lyase 5

Related Diseases

Diseases	Alias
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Dyskinesia, Familial, With Facial Myokymia FDFM Adcy5-Related Dyskinesia Familial Dyskinesia And Facial Myokymia DSKOD Familial Dyskinesia With Facial Myokymia
Dyskinesia With Orofacial Involvement, Autosomal Recessive	DSKOR
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	NEDHYD
Chorea, Benign Hereditary	Benign Hereditary Chorea BHC Chorea, Hereditary Benign Benign Familial Chorea Bch Hereditary Progressive Chorea Without Dementia Chorea Familial Benign Hereditary Chorea Without Dementia Chorea Benign Hereditary Bche Deficiency Chorea, Hereditary, Benign Chorea, Benign Familial
Dyskinetic Cerebral Palsy	Athetoid Cerebral Palsy Athetoid Dyskinetic Cerebral Palsy Cerebral Palsy Athetoid Cerebral Palsy Dyskinetic Athetoid Cerebral Paralysis Dyskinetic Cerebral Paralysis Vogt Disease Athetoid Cerebrum Palsy Double Athetosis Syndrome État Marbré
Hemiplegia	Infantile Hemiplegia Postnatal Infantile Hemiplegia Hemiplegia, Infantile
Neurodevelopmental Disorder With Involuntary Movements	NEDIM
Cowden Syndrome 6	CWS6 Cowden Syndrome, Type 6
Choreatic Disease	Chorea Hereditary Chorea
Alternating Hemiplegia Of Childhood	Alternating Hemiplegia Ahc Alternating Hemiplegia Syndrome Hemiplegia, Alternating, Of Childhood Hemiplegia, Crossed
Angiostrongyliasis	A. Cantonensis Angiostrongyliasis
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Major Depressive Disorder	Seasonal Affective Disorder Unipolar Depression Depression MDD Depressive Disorder Unipolar Depression, Susceptibility To Major Depressive Disorder 1 Major Depressive Disorder, Response To Citalopram Therapy In Major Depressive Disorder 2 Winter Depression Single Major Depressive Episode Sad Clinical Depression Major Depression Depressive Syndrome Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment Seasonal Affective Disorder, Susceptibility To Recurrent Major Depression Affective Disorder, Seasonal Depression In A Seasonal Pattern Depression Seasonal Major Depressive Disorder With A Seasonal Pattern Seasonal Depression Seasonal Mood Disorder Mental Depression Recurrent Major Depressive Episodes
Movement Disease	Movement Disorders Movement Disorder
Long Qt Syndrome 1	Romano-Ward Syndrome LQT1 Ward-Romano Syndrome Rws Ventricular Fibrillation With Prolonged Qt Interval Wrs Long Qt Syndrome 1, Acquired, Susceptibility To Long Qt Syndrome 1, Acquired Romano-Ward Long Qt Syndrome Long Qt Syndrome Type 1 Long Qt Syndrome-1 Acquired Susceptibility To Long Qt Syndrome 1 Qt Syndrome, Long, Type 1
Maturity-Onset Diabetes Of The Young	MODY Maturity Onset Diabetes Mellitus In Young Mason-Type Diabetes Mason Type Diabetes Maturity Onset Diabetes Of The Young Mody Syndrome Diabetes Of The Young, Maturity-Onset

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00331	ADCY5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22379	Adcy5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28903	Adcy5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ADCY5	VGNC	VGNC:25646
Felis catus	ADCY5	VGNC	VGNC:59618
Rattus norvegicus	ADCY5	RGD	RGD:71014
Mus musculus	ADCY5	MGD	MGI:99673
Canis familiaris	ADCY5	VGNC	VGNC:37622
Macaca mulatta	ADCY5	VGNC	VGNC:69512
Others	ADCY5	NCBI